Integrated Bioinformatics Analysis Suite for targeted NGS of clinical specimens

用于临床样本靶向 NGS 的集成生物信息学分析套件

• 批准号: 8715650
• 负责人: Brian Clifton Haynes
• 金额: $ 87.61万
• 依托单位: ASURAGEN, INC.
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-09-25 至 2016-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8715650
• 关键词: Address; Adopted; Adoption; Advanced Development; Amendment; Bioinformatics; Biological Assay; Cancer Patient; Caring; Clinical; Clinical Research; Code; Communities; Complex; DNA; Data; Data Analyses; Diagnostic; Environment; Fine needle aspiration biopsy; Formalin; Genetic Variation; Genome; Genotype; Ions; Knowledge; Laboratories; Libraries; Malignant Neoplasms; Methods; Metric; Mission; Paraffin Embedding; Patient Care; Performance; Phase; Preparation; Procedures; Process; Quality Control; Reagent; Refractory; Research; Research Infrastructure; Sampling; Site; Solutions; Specimen; System; Systems Analysis; Technology; Testing; Translations; Variant; Vision; base; cancer diagnosis; cancer type; clinical application; clinically relevant; cloud based; design; drug development; experience; improved; insertion/deletion mutation; instrumentation; meetings; next generation sequencing; novel; public health relevance; research and development; systems research; tool; validation studies; virtual

DESCRIPTION (provided by applicant): With the advent of rapid bench top sequencers such as the PGM and MiSeq, the potential to transform cancer diagnosis and patient care is great. Although sequencing instrumentation has become relatively affordable, the need for NGS data analysis and interpretation still remains a big hurdle to the adoption of NGS based assays for many research and clinical laboratories. Obtaining high quality results requires an extensive infrastructure and validated workflow which includes reagents, QC metrics, and bioinformatics analysis tools. Without proper controls which can identify problems, any NGS diagnostic assay can fail even before it starts. In Phase II, these challenges will be addressed by expanding the bioinformatics capabilities of SuraSight in conjunction with Asuragen's ongoing mission to provide high quality targeted NGS assays and NGS products for research and clinical applications. The following aims are proposed: Aim 1. Exapnd SuraSight"'s analytical and analysis capabilities while broadening support for multiple sequencing technologies. Aim 2. Enable SuraSight adoption by implementing a dynamic and feature-rich cloud-based framework. Aim 3. Demonstrate the robustness of the technologies developed in Aim 1 and 2 by supporting a multisite validation study. Upon completion of Phase II, a comprehensive NGS SuraSight system will be available for research and clinical laboratories; the SuraSight system provides testing solutions that are supported by a complete validated experimental workflow and automated analysis on a cloud-based infrastructure.

描述（由申请人提供）：随着 PGM 和 MiSeq 等快速台式测序仪的出现，改变癌症诊断和患者护理的潜力巨大。尽管测序仪器已经变得相对便宜，但对 NGS 数据分析和解释的需求仍然是许多研究和临床实验室采用基于 NGS 的检测的一大障碍。获得高质量的结果需要广泛的基础设施和经过验证的工作流程，其中包括试剂、QC 指标和生物信息学分析工具。如果没有能够识别问题的适当控制，任何 NGS 诊断分析甚至在开始之前都可能失败。 在第二阶段，这些挑战将通过扩展 SuraSight 的生物信息学能力以及 Asuragen 的持续使命来解决，即为研究和临床应用提供高质量的靶向 NGS 检测和 NGS 产品。提出了以下目标： 目标 1. 扩展 SuraSight 的分析和分析功能，同时扩大对多种测序技术的支持。目标 2. 通过实施动态且功能丰富的基于云的框架，促进 SuraSight 的采用。目标 3. 展示通过支持多站点验证研究，增强目标 1 和 2 中开发的技术的稳健性。第二阶段完成后，将为研究和临床实验室提供全面的 NGS SuraSight 系统，并提供测试。解决方案由经过验证的完整实验工作流程和基于云的基础设施上的自动分析提供支持。